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Thursday, September 9, 2010

Francis Collins, not PT Barnum, and The Greatest Show on Earth

We have a few more thoughts about the pronouncements of Francis Collins, Director of the NIH. We've recently commented on the issue of the relevance (or not) of his Christian fundamentalistic religious views. But we are more concerned with his level of advocacy for genetics research as the cure for all that ills us.

We don't mean to keep pounding at Francis, who is a good and honorable person and an effective manager of major scientific enterprises. But we feel that science is misrepresented by misstatement and overstatement, and that this has policy as well as scientific consequences. If we say something out of proportion, nobody will care, and no money will shift pockets as a result. But we don't lead the NIH (or edit a magazine like Nature). So, when Dr Collins lets loose with his Barnumology, we have to react. Otherwise, too many people simply accept, then repeat, then build into their work, the same statements. We've seen this again and again, even in science, in the way pronouncements laden with vested interests become quickly adopted (dare we mention GWAS here?).

Not too many years ago Dr Collins was quoted as predicting 'silver bullets' to cure all sorts of ailments, and that they would be around more or less at this time -- 2010. That was when he was Director of the Genome Institute, and the Hustler in Chief for their budgets. Now that he's Director of all of NIH, and wanting to steer our Ship of Health basically in the genomics direction, he's hyperbolizing in even more grandiose ways.

In his recent book The Language of Life, he says “There is no other scientific enterprise that humankind has mounted in an organized way that compares to this. I am sure that history will look back on this in a hundred years and say, ‘This was the most significant thing humankind has tried to do scientifically.'"

Once the genome was sequenced, Collins directed his enthusiasm toward the medical “revolution”—his term—that would result.

We do genetics and genomics every day, using the results of work he sponsored. It has been and clearly will continue to be important, and remarkable. But we wonder whether anyone takes even a millisecond to think about such statements, much less to call him on them. In a few milliseconds of our own, we wondered why and how the following would be judged to be of lesser impact. So, what about:

1. A modest development of human knowledge and technology that allowed our species to multiply a million fold in not too many generations? It’s called ‘agriculture.’

2. The discovery that the universe was controlled by inferrable laws? It’s called Galileo, Newton, and Copernicus and the development of modern physics with all that has influenced of our way of life.

3. The discovery of entirely unknown human inhabited planetary lands? It’s called the Age of Sail, and due to organized policies and navigation technologies, led to transformative colonization and world trade. Thank that for the bananas you had for breakfast and the spices you'll use on dinner.

4. The discovery of ways to nearly entirely wipe out diseases that affect extremely large numbers, if not the majority, of people for thousands of years? It’s called microbiology and antibiotics, and Pasteur made confrontation of infectious disease a major part of government.

5. The discovery of how everything (even including genes!) works. It’s called chemistry.

6. The discovery of ways to have portable power. It’s called the age of petroleum.

8. The discovery of ways for rapid miniscule movement. It’s called electronics and has totally transformed life in less than a century, including the internet and computing on which Francis Collins makes his pronouncements.

We could go on. But the point is to continue to resist the self-interested promotion with hyperbole that is not justified, especially when it’s designed to pry resources from your pocket to satisfy someone else’s interests or vision, that he can’t simply pay for out of his own pocket if he wants to do it.

If you want to rate the improvements in technology by how many people it has helped, or how it’s transformed human society, genetics is pretty far down the list. High up on that list would be water purification techniques. Or even window screens that keep out mosquitoes.

And then, of course, there are other areas of human life that could be helped with a bit of investment. They’re called the arts. They help cure the spirit, at least as important as curing the body.

4 comments:

Ken and Anne, perhaps I missed some earlier articles, but I finally understand your primary criticism of Collins as head of NIH, thank you.

One of my concerns is the treatment of known genetic diseases while I wonder if over-focus on GWAS could divert needed attention to the development of treatments for known genetic diseases. I know little about this subject, but I read an impressive case study for Glycogen storage disease type II (Pompe disease). Perhaps I might not have read about it if it weren't for the respective Harrison Ford movie. Anyway, merely discovering the genetic cause for Pompe was the tip of the iceberg. The development of the treatment took much more time and money. This leads to my questions: Could an over-focus on GWAS overshadow the more time/money consuming work of developing treatments for known genetic diseases? Could this turn out to be a major problem for NIH and Collins?

I know that my questions are loaded, but I hope to learn more about this.

This would be one of my central views. There are many clearly genetic diseases. Before we go searching for zillions of tiny genetic contributors, often if not mainly for diseases that are highly if not mainly due to environmental lifestyle factors, let's show that knowing the genes really matters.

To do that, I'd divert genetic research funds to the problems of those really genetic disorders.

But many disorders including cardiovascular diseases and cancers are largely if not by far mainly, due to lifestyle exposures. Funding to reduce those exposures would improve public health by far, far more than anything we can really dream about from a genetic point of view.

And there would be a bonus: after we reduced the needless (lifestyle-caused) cases of these diseases, the residuum that remained would be those cases that really were genetic. They would then be the wholly legitimate targets of research.

And by then, had we concentrated on what we already know are genetic diseases, we might have better methods for attacking the residuum of the complex diseases.

Actually, from a population genetics point of view, yes. Our variation is, statistically, roughly the amount that would be seen in a population at steady-state (between mutation of new variation and loss by drift), of about 5-10,000 random-mating, equally reproductive adults in synchronous generations.

It's just an approximation, but that roughly characterizes the net result, in terms of genetic variation, of such an idealized state. Then, in the past few thousand years, essentially aided by agriculture's provision of stable, large food sources, we expanded rapidly (in evolutionary terms) to our current 7 billion.

That expansion has been so quick in recent, again in evolutionary terms, that we have introduced large amounts of rare, new, geographically restricted variants.

That's what the statement means, and it is not one unique to me by any means. It's not controversial.

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